Q9H6U6 (BCAS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 104.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Breast carcinoma-amplified sequence 3 Alternative name(s): GAOB1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 928 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Subcellular location | Nucleus Potential. |
| Tissue specificity | Expressed in stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leukocyte and mammary epithelial cells. Overexpressed in most breast cancer cell lines. Ref.1 |
| Developmental stage | Fetal. |
| Involvement in disease | A chromosomal aberration involving BCAS3 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS4. |
| Sequence similarities | Belongs to the WD repeat BCAS3 family. Contains 3 WD repeats. |
| Sequence caution | The sequence AAF70324.1 differs from that shown. Reason: Frameshift at position 693. The sequence AAL99634.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA90966.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAB14078.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. Isoform 5: The sequence AK225757 differs from that shown. Reason: Frameshift at position 895. Isoform 5: The sequence CAD54076.1 differs from that shown. Reason: Frameshift at position 894. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Disease | Proto-oncogene |
| Domain | Repeat WD repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cell periphery Inferred from electronic annotation. Source: Compara cytoplasmInferred from electronic annotation. Source: Compara nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| VIM | P08670 | 3 | EBI-6083685,EBI-353844 |
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 2 (identifier: Q9H6U6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 1 (identifier: Q9H6U6-2) The sequence of this isoform differs from the canonical sequence as follows: 547-561: Missing. | ||||||
| Isoform 3 (identifier: Q9H6U6-3) The sequence of this isoform differs from the canonical sequence as follows: 547-561: Missing. 879-879: T → TDTALDVAVKTFPPERHVAVKCF | ||||||
| Isoform 4 (identifier: Q9H6U6-8) The sequence of this isoform differs from the canonical sequence as follows: 879-879: T → TDTALDVAVKTFPPERHVAVKCF | ||||||
| Isoform 5 (identifier: Q9H6U6-7) Also known as: Maaab1; The sequence of this isoform differs from the canonical sequence as follows: 547-561: Missing. 880-928: ELQREGSIET...PLSLFPTGFP → DTALDVAVKT...SARGKHRDSE | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q9H6U6-6) Also known as: Maaab2; The sequence of this isoform differs from the canonical sequence as follows: 1-229: Missing. 547-561: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 928 | 928 | Breast carcinoma-amplified sequence 3 | PRO_0000050883 | |||||
Regions | |||||||||
| Repeat | 69 – 114 | 46 | WD 1 | ||||||
| Repeat | 349 – 389 | 41 | WD 2 | ||||||
| Repeat | 403 – 447 | 45 | WD 3 | ||||||
Sites | |||||||||
| Site | 824 – 825 | 2 | Breakpoint for translocation to form BCAS4-BCAS3 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 480 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 869 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 886 | 1 | Phosphoserine Ref.10 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 229 | 229 | Missing in isoform 6. | VSP_040112 | |||||
| Alternative sequence | 547 – 561 | 15 | Missing in isoform 1, isoform 3, isoform 5 and isoform 6. | VSP_007858 | |||||
| Alternative sequence | 879 | 1 | T → TDTALDVAVKTFPPERHVAV KCF in isoform 3 and isoform 4. | VSP_007860 | |||||
| Alternative sequence | 880 – 928 | 49 | ELQRE…PTGFP → DTALDVAVKTFPPERHVAVK CFGKKKGKKKQCQQPSVREQ PNSNKACVRDGGRTSARGKH RDSE in isoform 5. | VSP_040113 | |||||
| Natural variant | 87 | 1 | N → S. Ref.1 Ref.2 Ref.4 Ref.5 Corresponds to variant rs2643103 [ dbSNP | Ensembl ]. | VAR_065093 | |||||
| Natural variant | 106 | 1 | I → V. Corresponds to variant rs34712615 [ dbSNP | Ensembl ]. | VAR_057583 | |||||
Experimental info | |||||||||
| Sequence conflict | 29 | 1 | E → K in AAL99632. Ref.1 | ||||||
| Sequence conflict | 127 | 1 | R → K in AAL99632. Ref.1 | ||||||
| Sequence conflict | 199 – 200 | 2 | VV → II in BAB15156. Ref.2 | ||||||
| Sequence conflict | 533 | 1 | K → E in BAB14078. Ref.2 | ||||||
| Sequence conflict | 533 | 1 | K → E in BAB14380. Ref.2 | ||||||
| Sequence conflict | 640 | 1 | D → G in BAB15156. Ref.2 | ||||||
| Sequence conflict | 666 | 1 | Q → R in BAB14078. Ref.2 | ||||||
| Sequence conflict | 806 | 1 | S → P in BAB15156. Ref.2 | ||||||
| Isoform 5: | |||||||||
| Sequence conflict | 891 | 1 | G → R in CAD54076. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer." Baerlund M., Monni O., Weaver J.D., Kauraniemi P., Sauter G., Heiskanen M., Kallioniemi O.-P., Kallioniemi A. Genes Chromosomes Cancer 35:311-317(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH BCAS4, VARIANT SER-87. Tissue: Liver. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 5 AND 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 478-928 (ISOFORM 3), VARIANT SER-87. Tissue: Colon. |
| [3] | "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. Nusbaum C.Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-87. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT SER-87. Tissue: Brain and Cervix. |
| [6] | "Cloning and sequencing of a new isoform similar to FLJ20128 and BCAS3." Bauer M. Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-433 (ISOFORM 6), PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5). |
| [7] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 475-928 (ISOFORM 4). Tissue: Brain. |
| [8] | "Five novel genes from 17q23 amplicon have different amplification and overexpression frequency in breast cancer." Wu G., Couch F.J. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 510-928 (ISOFORMS 1/6). |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-480, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-886, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [11] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF361219 mRNA. Translation: AAL99632.1. AF361221 mRNA. Translation: AAL99634.1. Different initiation. AK000135 mRNA. Translation: BAA90966.1. Different initiation. AK022526 mRNA. Translation: BAB14078.1. Different initiation. AK023054 mRNA. Translation: BAB14380.1. AK025510 mRNA. Translation: BAB15156.1. AK225757 mRNA. No translation available. AC005746 Genomic DNA. No translation available. AC005856 Genomic DNA. No translation available. AC005884 Genomic DNA. No translation available. AC015876 Genomic DNA. No translation available. AC079005 Genomic DNA. No translation available. AC110602 Genomic DNA. No translation available. CH471179 Genomic DNA. Translation: EAW51414.1. BC001250 mRNA. Translation: AAH01250.2. BC117275 mRNA. Translation: AAI17276.1. BC143386 mRNA. Translation: AAI43387.1. AJ511332 mRNA. Translation: CAD54076.1. Frameshift. AJ518105 mRNA. Translation: CAD57723.1. AL831895 mRNA. Translation: CAD38568.1. AF260268 mRNA. Translation: AAF70324.1. Frameshift. |
| IPI | IPI00332095. IPI00332097. IPI00411606. IPI00783452. IPI00902682. IPI00973013. |
| RefSeq | NP_001092902.1. NM_001099432.1. NP_060149.3. NM_017679.3. |
| UniGene | Hs.655028. |
3D structure databases | |
| ProteinModelPortal | Q9H6U6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H6U6. 1 interaction. |
PTM databases | |
| PhosphoSite | Q9H6U6. |
Polymorphism databases | |
| DMDM | 33514881. |
Proteomic databases | |
| PaxDb | Q9H6U6. |
| PRIDE | Q9H6U6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000390652; ENSP00000375067; ENSG00000141376. ENST00000407086; ENSP00000385323; ENSG00000141376. ENST00000408905; ENSP00000386173; ENSG00000141376. ENST00000588462; ENSP00000468592; ENSG00000141376. ENST00000588874; ENSP00000464825; ENSG00000141376. ENST00000589222; ENSP00000466078; ENSG00000141376. |
| GeneID | 54828. |
| KEGG | hsa:54828. |
| UCSC | uc002iyu.4. human. uc002iyv.4. human. uc002iyw.4. human. uc002iyy.4. human. uc002iyz.4. human. uc002iza.4. human. |
Organism-specific databases | |
| CTD | 54828. |
| GeneCards | GC17P058755. |
| H-InvDB | HIX0021877. |
| HGNC | HGNC:14347. BCAS3. |
| HPA | HPA052409. |
| MIM | 607470. gene. |
| neXtProt | NX_Q9H6U6. |
| PharmGKB | PA25286. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG321894. |
| HOVERGEN | HBG050676. |
| OMA | PQFGAQK. |
Gene expression databases | |
| Bgee | Q9H6U6. |
| Genevestigator | Q9H6U6. |
| GermOnline | ENSG00000141376. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 2 hits. |
| InterPro | IPR022175. BCAS3. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. [Graphical view] |
| Pfam | PF12490. BCAS3. 1 hit. PF00400. WD40. 1 hit. [Graphical view] |
| SMART | SM00320. WD40. 2 hits. [Graphical view] |
| PROSITE | PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | BCAS3. human. |
| GenomeRNAi | 54828. |
| NextBio | 57598. |
| SOURCE | Search... |
Entry information
| Entry name | BCAS3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H6U6 Secondary accession number(s): Q17RM0 Q9NXP4 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
